Investigations
This condition can be diagnosed prenatally by culture of amniotic fluid and estimation of the relevant enzyme.
Post-natal diagnosis is possible on a single hair root by assessment of reduced erythrocyte hypoxanthine-guanine phosphoribosyltransferase (HPRT).
There is hyperuricaemia, of about the same level as in gout.
Reference:
- Nanagiri A. Lesch-Nyhan Syndrome. Treasure Island (FL): StatPearls Publishing. 2025 Jan.
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